Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024141 (systemic lupus erythematosus)
 44,322 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A patient with IgM-secreting B-cell lymphoma developed demyelinating peripheral neuropathy, nodular regenerative hyperplasia of the liver, coagulopathy, and terminal miliary lymphomatous spreading. Serologic auto-antibody activities directed against myelin associated glycoprotein, prothrombinase complex (i.e. lupus anticoagulant) and smooth muscle cells were detected. It is suggested that there is a link between the IgM gammopathy, the immunological abnormalities and the various clinico-pathological conditions.
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PMID:Peripheral neuropathy, coagulopathy and nodular regenerative hyperplasia of the liver in a patient with multiple serologic auto-antibody activities and IgM B-cell lymphoma. 255 47

Recent reports strongly suggest an association between a laboratory picture of autoimmunity in the absence of clinical signs and symptoms and the recurrence of spontaneous pregnancy loss. This association seems particularly strong when circulating lupus anticoagulant is present and has therefore been called the circulating lupus anticoagulant syndrome. We present four patients with this syndrome who in addition to the asymptomatic autoimmune laboratory picture were also found to exhibit a distinct IgM gammopathy. In view of earlier reports that implicated IgM in poor pregnancy outcome, particularly in association with systemic lupus erythematosus, it is suggested that all patients with circulating lupus anticoagulant syndrome be evaluated for an IgM gammopathy. A fraction of IgM may be detrimental to development and growth of the normal fetal placental unit and may thus be implicated in repeated early pregnancy loss.
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PMID:IgM gammopathy and the lupus anticoagulant syndrome in habitual aborters. 392 18

The Schnitzler syndrome is characterized by a chronic urticarial eruption with a monoclonal IgM gammopathy. The other signs of the syndrome include intermittent elevated fever, joint and/or bone pain with radiologic evidence of osteosclerosis, palpable lymph nodes, enlarged liver and/or spleen, elevated erythrocyte sedimentation rate, and leukocytosis. The mean delay to diagnosis is more than 5 years, and this syndrome is of concern to internists and many medical specialists. Patients with this syndrome are often initially considered to have lymphoma or adult-onset Still disease, which are the main differential diagnoses. However, hypocomplementic urticarial vasculitis, systemic lupus erythematosus, cryoglobulinemia, acquired C1 inhibitor deficiency, hyper IgD syndrome, chronic infantile neurologic cutaneous and articular (CINCA) syndrome, and Muckle-Wells syndrome should also be excluded, because diagnosis relies on a combination of clinical and biologic signs and there is no specific marker of the disease. The disease pursues a chronic course, and no remissions have yet been reported. Disabling skin rash, fever, and musculoskeletal involvement are the most frequent complications. Severe anemia of chronic disease is another serious complication. The most harmful complication, however, is evolution to an authentic lymphoplasmacytic malignancy, which occurs in at least 15% of patients. This hematologic transformation can occur more than 20 years after the first signs of the disease, thus patients deserve long-term follow-up. Treatment is symptomatic and unsatisfactory. The skin rash is unresponsive to treatment, and nonsteroidal antiinflammatory drugs, antihistamines, dapsone, colchicine, and psoralens and ultraviolet A (PUVA) therapy give inconstant results. Fever, arthralgia, and bone pain often respond to nonsteroidal antiinflammatory drugs. In some patients, these symptoms and/or the presence of severe inflammatory anemia require steroids and/or immunosuppressive treatment, which ameliorate inflammatory symptoms but do not change the course of the skin rash.
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PMID:The Schnitzler syndrome. Four new cases and review of the literature. 1120 1

The plasma of a patient with myasthenia gravis had strong lupus anticoagulant activity and his IgM paraprotein displayed non-specific inhibition to coagulation factors IX, XI, XII, prekallikrein, and high molecular weight kininogen. He was placed on prednisolone, which resulted in improvement in his myasthenic symptoms, but the prolongation of APTT and macroglobulinemia remained. Double filtration plasmapheresis successfully decreased the serum IgM level from 1,190 mg/dl to 375 mg/dl and APTT improved from 58 s to 38 s. Myasthenia gravis is frequently associated with other autoimmune diseases, but the association with lupus anticoagulant and IgM gammopathy is rare.
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PMID:Lupus anticoagulant in myasthenia gravis associated with IgM gammopathy. 1157 64

The list of multisystem diseases involving both kidney and skin is long and includes immunologic disorders like systemic lupus erythematodes, a broad variety of vasculitides, metabolic disorders like diabetes mellitus, and infectious diseases. The present work describes the first case of renal failure due to Schnitzler's syndrome, a rare entity characterized by the association of generalized chronic urticaria, monoclonal IgM gammopathy, and osteosclerotic lesions. The described patient experiences improvement of renal function after treatment with the chimeric anti-CD20 antibody rituximab, indicating that the impairment of renal function might be mediated by B-lymphocytes. Renal insufficiency is known to be a potential complication of hypocomplementemic urticarial vasculitis. The present case reveals that it can occur in normocomplementemic urticarial vasculitides as well. Schnitzler's syndrome is a rare but probably underdiagnosed syndrome. It should be considered in the differential diagnosis of rash and coincidental renal failure of unknown origin. Immunofixation of immunoglobulins constitutes the crucial diagnostic step, since monoclonal gammopathy is a constant clinical sign in this entity.
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PMID:Impairment of renal function in Schnitzler's syndrome. 1713 97